rs397508152
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CAAAC;CAAAC) | 0 | common in clinvar |
| Make rs397508152(AAAAA;AAAAA) |
| Make rs397508152(AAAAA;CAAAC) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117540305 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508152 |
| dbSNP (classic) | rs397508152 |
| ClinGen | rs397508152 |
| ebi | rs397508152 |
| HLI | rs397508152 |
| Exac | rs397508152 |
| Gnomad | rs397508152 |
| Varsome | rs397508152 |
| LitVar | rs397508152 |
| Map | rs397508152 |
| PheGenI | rs397508152 |
| Biobank | rs397508152 |
| 1000 genomes | rs397508152 |
| hgdp | rs397508152 |
| ensembl | rs397508152 |
| geneview | rs397508152 |
| scholar | rs397508152 |
| rs397508152 | |
| pharmgkb | rs397508152 |
| gwascentral | rs397508152 |
| openSNP | rs397508152 |
| 23andMe | rs397508152 |
| SNPshot | rs397508152 |
| SNPdbe | rs397508152 |
| MSV3d | rs397508152 |
| GWAS Ctlg | rs397508152 |
| Max Magnitude | 0 |
aka Gln359_Thr360delinsLysLys or c.1075_1079delCAAACinsAAAAA
According to both CFTR2 and ClinVar, this is a change in the CFTR gene of unknown clinical significance
| ClinVar | |
|---|---|
| Risk | rs397508152(AAAAA;AAAAA) |
| Alt | rs397508152(AAAAA;AAAAA) |
| Reference | Rs397508152(CAAAC;CAAAC) |
| Significance | Untested |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117180359_117180363delCAAACinsAAAAA |
| CLNSRC | |
| CLNACC | RCV000046220.2, |
